ClinVar Miner

Variants in gene combination KCNQ1, KCNQ1OT1 with conflicting interpretations reported as "benign and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 37
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1455C>T (p.Phe485=) rs17215465 0.01545
NM_000218.3(KCNQ1):c.1394-14C>T rs28730758 0.01027
NM_000218.3(KCNQ1):c.1394-27C>T rs28730757 0.00360
NM_000218.3(KCNQ1):c.1514+34253G>A rs191910825 0.00357
NM_000218.3(KCNQ1):c.1394-1572T>A rs1047841136 0.00315
NM_000218.3(KCNQ1):c.1394-11027T>A rs77809463 0.00290
NM_000218.3(KCNQ1):c.1514+10580T>C rs537598032 0.00219
NM_000218.3(KCNQ1):c.1514+4493A>T rs61870800 0.00215
NM_000218.3(KCNQ1):c.1514+3197C>G rs565014702 0.00083
NM_000218.3(KCNQ1):c.1431C>T (p.Pro477=) rs137887424 0.00050
NM_000218.3(KCNQ1):c.1476A>G (p.Glu492=) rs370676650 0.00011
NM_000218.3(KCNQ1):c.1514+7G>T rs372593469 0.00006
NM_000218.3(KCNQ1):c.1393+19784dup
NM_000218.3(KCNQ1):c.1393+20618A>C
NM_000218.3(KCNQ1):c.1393+22149A>T
NM_000218.3(KCNQ1):c.1394-11748C>A
NM_000218.3(KCNQ1):c.1394-13971G>A
NM_000218.3(KCNQ1):c.1394-13_1394-12del rs550005589
NM_000218.3(KCNQ1):c.1394-1573del rs769229810
NM_000218.3(KCNQ1):c.1394-20753C>T
NM_000218.3(KCNQ1):c.1394-34447C>A rs574299058
NM_000218.3(KCNQ1):c.1394-3571A>G
NM_000218.3(KCNQ1):c.1394-41G>T rs74046836
NM_000218.3(KCNQ1):c.1394-5806C>A
NM_000218.3(KCNQ1):c.1394-6817T>C
NM_000218.3(KCNQ1):c.1394-8C>T rs371488379
NM_000218.3(KCNQ1):c.1514+11010C>T
NM_000218.3(KCNQ1):c.1514+141C>A
NM_000218.3(KCNQ1):c.1514+23744C>T
NM_000218.3(KCNQ1):c.1514+23871G>C
NM_000218.3(KCNQ1):c.1514+28055G>A
NM_000218.3(KCNQ1):c.1514+29457A>G
NM_000218.3(KCNQ1):c.1514+3307del
NM_000218.3(KCNQ1):c.1514+35672_1514+35674del
NM_000218.3(KCNQ1):c.1514+4764G>A
NM_000218.3(KCNQ1):c.1514+8939G>A
NM_000218.3(KCNQ1):c.1514+973G>C

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